Journal of thrombosis and haemostasis : JTH · 2024
Comparing one stage, chromogenic assay results and discrepancies with bleeding phenotype and genetic variants in females with hemophilia A.
СтатьяСравнительное исследованиеПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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Srivaths Lakshmi, Larson Joanna, Saroukhani Sepideh, Said Mohammed, Brown Deborah, Rodriguez Nidra, Menon Neethu, Escobar Miguel
Аннотация
BACKGROUND: Increasing evidence in females with hemophilia A has shown significant bleeding symptoms. Accurate factor (F) VIII activity (FVIII:C) measurement is essential to assign correct diagnosis and severity. Assay discrepancies reported in male patients with hemophilia A are not well studied in females.
OBJECTIVES: Our research sought to assess the association of FVIII:C levels by one-stage versus chromogenic assays and the assay discrepancy with bleeding phenotype and genetic mutation in females with hemophilia A.
METHODS: Data from 64 females with hemophilia A from our center were reviewed with center's institutional review board approval. Descriptive statistics, chi-squared, Fisher's exact, and Bland-Altman plot analysis were applied.
RESULTS: Abnormal International Society on Thrombosis and Haemostasis bleeding assessment tool score was seen in 52% (FVIII:C <40 IU/dL: 72%/73%; FVIII:C ≥40 IU/dL: 41%/45%; by one-stage and chromogenic assays, respectively), more often in adults and postmenarchal patients. Assay discrepancies were present, direct more often than inverse. Based on one assay result only, 11 (17%) patients would have been incorrectly diagnosed and 1 (1.5%) patient would have been assigned incorrect hemophilia severity. No associations of genetic variants with FVIII:C levels and bleeding phenotype were found.
CONCLUSION: Our study emphasizes the importance of evaluating female patients with hemophilia A for bleeding phenotype. Our study is the first to document prevalence of assay discrepancies exclusively in females with hemophilia A, which can lead to inaccurate diagnosis and severity assignment. Future larger, multicenter studies are needed to validate our findings, to help develop recommendations regarding the appropriate use of assays for accurate diagnosis and to further elucidate the association of genetic variants with bleeding phenotype and assay discrepancies.
OBJECTIVES: Our research sought to assess the association of FVIII:C levels by one-stage versus chromogenic assays and the assay discrepancy with bleeding phenotype and genetic mutation in females with hemophilia A.
METHODS: Data from 64 females with hemophilia A from our center were reviewed with center's institutional review board approval. Descriptive statistics, chi-squared, Fisher's exact, and Bland-Altman plot analysis were applied.
RESULTS: Abnormal International Society on Thrombosis and Haemostasis bleeding assessment tool score was seen in 52% (FVIII:C <40 IU/dL: 72%/73%; FVIII:C ≥40 IU/dL: 41%/45%; by one-stage and chromogenic assays, respectively), more often in adults and postmenarchal patients. Assay discrepancies were present, direct more often than inverse. Based on one assay result only, 11 (17%) patients would have been incorrectly diagnosed and 1 (1.5%) patient would have been assigned incorrect hemophilia severity. No associations of genetic variants with FVIII:C levels and bleeding phenotype were found.
CONCLUSION: Our study emphasizes the importance of evaluating female patients with hemophilia A for bleeding phenotype. Our study is the first to document prevalence of assay discrepancies exclusively in females with hemophilia A, which can lead to inaccurate diagnosis and severity assignment. Future larger, multicenter studies are needed to validate our findings, to help develop recommendations regarding the appropriate use of assays for accurate diagnosis and to further elucidate the association of genetic variants with bleeding phenotype and assay discrepancies.
Предметные рубрики MeSH
HumansHemophilia AFemaleFactor VIIIPhenotypeAdultHemorrhageMiddle AgedMutationYoung AdultAdolescentBlood Coagulation TestsReproducibility of ResultsPredictive Value of TestsGenetic VariationChromogenic CompoundsChildAgedSeverity of Illness IndexGenetic Predisposition to DiseaseChild, PreschoolRetrospective Studies